Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | neurodevelopmental disorder with spasticity and poor growth | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | neurodevelopmental disorder with spasticity and poor growth | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10810093 | PMID:11042152 | PMID:12477932 | PMID:15071506 | PMID:15489334 | PMID:17353931 | PMID:19056867 | PMID:19101823 | PMID:20018847 | PMID:20164180 | PMID:20562859 |
PMID:21873635 | PMID:22939629 | PMID:23152784 | PMID:23376485 | PMID:24726913 | PMID:24966333 | PMID:25084390 | PMID:25213431 | PMID:25219498 | PMID:25449213 | PMID:25902260 | PMID:26186194 |
PMID:26344197 | PMID:26496610 | PMID:27529373 | PMID:28514442 | PMID:28846114 | PMID:29868776 | PMID:29970131 | PMID:30886146 | PMID:31560077 | PMID:32160526 | PMID:32242003 | PMID:32296183 |
PMID:32545848 | PMID:32694731 | PMID:32807901 | PMID:32814053 | PMID:32989298 | PMID:33961781 | PMID:34299007 | PMID:34373451 | PMID:34588452 | PMID:35271311 | PMID:35327612 | PMID:36215168 |
PMID:36305789 | PMID:36724073 | PMID:37595036 | PMID:37827155 |
UFC1 (Homo sapiens - human) |
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Ufc1 (Mus musculus - house mouse) |
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Ufc1 (Rattus norvegicus - Norway rat) |
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Ufc1 (Chinchilla lanigera - long-tailed chinchilla) |
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UFC1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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UFC1 (Canis lupus familiaris - dog) |
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Ufc1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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UFC1 (Sus scrofa - pig) |
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UFC1 (Chlorocebus sabaeus - green monkey) |
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Ufc1 (Heterocephalus glaber - naked mole-rat) |
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Variants in UFC1
13 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3 | copy number gain | See cases [RCV000051555] | Chr1:160866658..161315114 [GRCh38] Chr1:160836448..161284904 [GRCh37] Chr1:159103072..159551528 [NCBI36] Chr1:1q23.3 |
uncertain significance |
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 | copy number loss | See cases [RCV000051172] | Chr1:159479887..166895086 [GRCh38] Chr1:159449677..166864323 [GRCh37] Chr1:157716301..165130947 [NCBI36] Chr1:1q23.2-24.1 |
pathogenic |
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 | copy number gain | See cases [RCV000051854] | Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1 |
pathogenic |
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] | Chr1:160789732..168617494 [GRCh38] Chr1:160759522..168586732 [GRCh37] Chr1:159026146..166853356 [NCBI36] Chr1:1q23.3-24.2 |
pathogenic |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 | copy number gain | See cases [RCV000143515] | Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) | copy number loss | not provided [RCV000767779] | Chr1:160369890..175796325 [GRCh37] Chr1:1q23.2-25.1 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_016406.4(UFC1):c.377C>T (p.Ala126Val) | single nucleotide variant | Inborn genetic diseases [RCV003302315] | Chr1:161158165 [GRCh38] Chr1:161127955 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016406.4(UFC1):c.212A>G (p.Tyr71Cys) | single nucleotide variant | Inborn genetic diseases [RCV003257311] | Chr1:161157274 [GRCh38] Chr1:161127064 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016406.4(UFC1):c.317C>T (p.Thr106Ile) | single nucleotide variant | Neurodevelopmental disorder with spasticity and poor growth [RCV000677144] | Chr1:161157678 [GRCh38] Chr1:161127468 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_016406.4(UFC1):c.68G>A (p.Arg23Gln) | single nucleotide variant | Neurodevelopmental disorder with spasticity and poor growth [RCV000677145] | Chr1:161154065 [GRCh38] Chr1:161123855 [GRCh37] Chr1:1q23.3 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 | copy number loss | not provided [RCV000736717] | Chr1:159815642..177026983 [GRCh37] Chr1:1q23.2-25.2 |
pathogenic |
NC_000001.11:g.(?_160816880)_(161362518_?)dup | duplication | Gastrointestinal stromal tumor [RCV001031279] | Chr1:160786670..161332308 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.10:g.(?_160786670)_(161332233_?)dup | duplication | Gastrointestinal stromal tumor [RCV000792787] | Chr1:160816880..161362443 [GRCh38] Chr1:160786670..161332233 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 | copy number gain | not provided [RCV000849025] | Chr1:160744174..162583871 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 | copy number loss | not provided [RCV000848773] | Chr1:157321299..167391423 [GRCh37] Chr1:1q23.1-24.2 |
pathogenic |
GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3 | copy number gain | not provided [RCV001005145] | Chr1:160977795..161189147 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016406.4(UFC1):c.41C>T (p.Pro14Leu) | single nucleotide variant | Neurodevelopmental disorder with spasticity and poor growth [RCV001335820] | Chr1:161154038 [GRCh38] Chr1:161123828 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016406.4(UFC1):c.153C>A (p.Asn51Lys) | single nucleotide variant | Neurodevelopmental disorder with spasticity and poor growth [RCV001330933] | Chr1:161156979 [GRCh38] Chr1:161126769 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_016406.4(UFC1):c.135CAA[1] (p.Asn46del) | microsatellite | Neurodevelopmental disorder with spasticity and poor growth [RCV002284999] | Chr1:161156959..161156961 [GRCh38] Chr1:161126749..161126751 [GRCh37] Chr1:1q23.3 |
pathogenic |
GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3 | copy number gain | not provided [RCV001829131] | Chr1:160859558..161409185 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) | copy number loss | not specified [RCV002053658] | Chr1:160417296..166197042 [GRCh37] Chr1:1q23.2-24.1 |
pathogenic |
NC_000001.10:g.(?_158581054)_(162750036_?)dup | duplication | Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] | Chr1:158581054..162750036 [GRCh37] Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3 | copy number gain | not provided [RCV002475740] | Chr1:160778879..161190622 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016406.4(UFC1):c.365A>C (p.Lys122Thr) | single nucleotide variant | Inborn genetic diseases [RCV002818084] | Chr1:161158153 [GRCh38] Chr1:161127943 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016406.4(UFC1):c.151A>T (p.Asn51Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002793460] | Chr1:161156977 [GRCh38] Chr1:161126767 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016406.4(UFC1):c.247G>A (p.Glu83Lys) | single nucleotide variant | Inborn genetic diseases [RCV002696494]|UFC1-related condition [RCV003918952] | Chr1:161157309 [GRCh38] Chr1:161127099 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_016406.4(UFC1):c.472G>A (p.Val158Ile) | single nucleotide variant | Inborn genetic diseases [RCV003172882] | Chr1:161158460 [GRCh38] Chr1:161128250 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016406.4(UFC1):c.39C>G (p.Ile13Met) | single nucleotide variant | Inborn genetic diseases [RCV003377071] | Chr1:161154036 [GRCh38] Chr1:161123826 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 | copy number loss | not provided [RCV003483944] | Chr1:158001058..162858285 [GRCh37] Chr1:1q23.1-23.3 |
likely pathogenic |
NM_016406.4(UFC1):c.432A>G (p.Pro144=) | single nucleotide variant | not provided [RCV003409201] | Chr1:161158420 [GRCh38] Chr1:161128210 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_016406.4(UFC1):c.153C>T (p.Asn51=) | single nucleotide variant | UFC1-related condition [RCV003924750] | Chr1:161156979 [GRCh38] Chr1:161126769 [GRCh37] Chr1:1q23.3 |
benign |
NM_016406.4(UFC1):c.48G>C (p.Leu16=) | single nucleotide variant | UFC1-related condition [RCV003937226] | Chr1:161154045 [GRCh38] Chr1:161123835 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_016406.4(UFC1):c.138C>T (p.Asn46=) | single nucleotide variant | not provided [RCV003886294] | Chr1:161156964 [GRCh38] Chr1:161126754 [GRCh37] Chr1:1q23.3 |
likely benign |
NC_000001.11:g.161152992G>C | single nucleotide variant | not provided [RCV003887195] | Chr1:161152992 [GRCh38] Chr1:161122782 [GRCh37] Chr1:1q23.3 |
benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH75 |
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G19947 |
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A002D06 |
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D1S3338 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 5 | |||||||||||||||||
Medium | 2439 | 2898 | 1713 | 611 | 1921 | 452 | 4357 | 2133 | 3731 | 417 | 1455 | 1613 | 175 | 1 | 1204 | 2788 | 6 | 2 |
Low | 93 | 13 | 13 | 30 | 13 | 64 | 3 | 2 | ||||||||||
Below cutoff |
RefSeq Transcripts | NM_016406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_005245254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017001450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017001451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054336969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054336970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054336971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054336972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054336973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB154405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF151884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF161504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK292776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL590714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL591806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX888048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX888049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC005187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CF128121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000368003 ⟹ ENSP00000356982 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000463735 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000467540 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000473766 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000482672 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000483191 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_016406 ⟹ NP_057490 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005245254 ⟹ XP_005245311 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054336969 ⟹ XP_054192944 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054336970 ⟹ XP_054192945 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054336971 ⟹ XP_054192946 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054336972 ⟹ XP_054192947 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054336973 ⟹ XP_054192948 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_057490 | (Get FASTA) | NCBI Sequence Viewer |
XP_005245311 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192944 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192945 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192946 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192947 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192948 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD34121 | (Get FASTA) | NCBI Sequence Viewer |
AAF29119 | (Get FASTA) | NCBI Sequence Viewer | |
AAH05187 | (Get FASTA) | NCBI Sequence Viewer | |
BAD15374 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85465 | (Get FASTA) | NCBI Sequence Viewer | |
CAE93973 | (Get FASTA) | NCBI Sequence Viewer | |
CAE93974 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52646 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52647 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000356982 | ||
ENSP00000356982.5 | |||
GenBank Protein | Q9Y3C8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_057490 ⟸ NM_016406 |
- UniProtKB: | Q9BS96 (UniProtKB/Swiss-Prot), Q5VTX1 (UniProtKB/Swiss-Prot), Q549X0 (UniProtKB/Swiss-Prot), D3DVF9 (UniProtKB/Swiss-Prot), A8K9R1 (UniProtKB/Swiss-Prot), Q9P009 (UniProtKB/Swiss-Prot), Q9Y3C8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005245311 ⟸ XM_005245254 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSP00000356982 ⟸ ENST00000368003 |
RefSeq Acc Id: | XP_054192945 ⟸ XM_054336970 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q9Y3C8 (UniProtKB/Swiss-Prot), Q9BS96 (UniProtKB/Swiss-Prot), Q5VTX1 (UniProtKB/Swiss-Prot), Q549X0 (UniProtKB/Swiss-Prot), D3DVF9 (UniProtKB/Swiss-Prot), A8K9R1 (UniProtKB/Swiss-Prot), Q9P009 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054192944 ⟸ XM_054336969 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q9Y3C8 (UniProtKB/Swiss-Prot), Q9BS96 (UniProtKB/Swiss-Prot), Q5VTX1 (UniProtKB/Swiss-Prot), Q549X0 (UniProtKB/Swiss-Prot), D3DVF9 (UniProtKB/Swiss-Prot), A8K9R1 (UniProtKB/Swiss-Prot), Q9P009 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054192947 ⟸ XM_054336972 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q9Y3C8 (UniProtKB/Swiss-Prot), Q9BS96 (UniProtKB/Swiss-Prot), Q5VTX1 (UniProtKB/Swiss-Prot), Q549X0 (UniProtKB/Swiss-Prot), D3DVF9 (UniProtKB/Swiss-Prot), A8K9R1 (UniProtKB/Swiss-Prot), Q9P009 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054192946 ⟸ XM_054336971 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q9Y3C8 (UniProtKB/Swiss-Prot), Q9BS96 (UniProtKB/Swiss-Prot), Q5VTX1 (UniProtKB/Swiss-Prot), Q549X0 (UniProtKB/Swiss-Prot), D3DVF9 (UniProtKB/Swiss-Prot), A8K9R1 (UniProtKB/Swiss-Prot), Q9P009 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054192948 ⟸ XM_054336973 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y3C8-F1-model_v2 | AlphaFold | Q9Y3C8 | 1-167 | view protein structure |
RGD ID: | 6787174 | ||||||||
Promoter ID: | HG_KWN:5818 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_016406, OTTHUMT00000080812, OTTHUMT00000080813, OTTHUMT00000080814, OTTHUMT00000080815 | ||||||||
Position: |
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RGD ID: | 6857856 | ||||||||
Promoter ID: | EPDNEW_H2093 | ||||||||
Type: | initiation region | ||||||||
Name: | UFC1_2 | ||||||||
Description: | ubiquitin-fold modifier conjugating enzyme 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2092 EPDNEW_H2094 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6857858 | ||||||||
Promoter ID: | EPDNEW_H2094 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | UFC1_1 | ||||||||
Description: | ubiquitin-fold modifier conjugating enzyme 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2092 EPDNEW_H2093 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:26941 | AgrOrtholog |
COSMIC | UFC1 | COSMIC |
Ensembl Genes | ENSG00000143222 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000368003 | ENTREZGENE |
ENST00000368003.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.10.110.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000143222 | GTEx |
HGNC ID | HGNC:26941 | ENTREZGENE |
Human Proteome Map | UFC1 | Human Proteome Map |
InterPro | UBQ-conjugating_enzyme/RWD | UniProtKB/Swiss-Prot |
Ufc1 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:51506 | UniProtKB/Swiss-Prot |
NCBI Gene | 51506 | ENTREZGENE |
OMIM | 610554 | OMIM |
PANTHER | PTHR12921 | UniProtKB/Swiss-Prot |
UBIQUITIN-FOLD MODIFIER-CONJUGATING ENZYME 1 | UniProtKB/Swiss-Prot | |
Pfam | UFC1 | UniProtKB/Swiss-Prot |
PharmGKB | PA142670644 | PharmGKB |
PIRSF | DUF1782 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF54495 | UniProtKB/Swiss-Prot |
UniProt | A8K9R1 | ENTREZGENE |
D3DVF9 | ENTREZGENE | |
Q549X0 | ENTREZGENE | |
Q5VTX1 | ENTREZGENE | |
Q9BS96 | ENTREZGENE | |
Q9P009 | ENTREZGENE | |
Q9Y3C8 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A8K9R1 | UniProtKB/Swiss-Prot |
D3DVF9 | UniProtKB/Swiss-Prot | |
Q549X0 | UniProtKB/Swiss-Prot | |
Q5VTX1 | UniProtKB/Swiss-Prot | |
Q9BS96 | UniProtKB/Swiss-Prot | |
Q9P009 | UniProtKB/Swiss-Prot |